| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.47574229_47574321del | CA2693584929 | SYN1 | c.1673_1765del (p.Ala558_Gln588del) c.70+377_70+469del (n.70+377_70+469del) | gnomAD v4 |
| X | g.47574262C>A | CA516353795 | SYN1 | c.1722G>T (p.Pro574=) c.70+426G>T (n.70+426G>T) | gnomAD v4 |
| X | g.47574262C= | CA2427971239 | SYN1 | c.1722G= (p.Pro574=) c.70+426G= (n.70+426G=) | |
| X | g.47574262C>G | CA516353797 | SYN1 | c.1722G>C (p.Pro574=) c.70+426G>C (n.70+426G>C) | |
| X | g.47574262C>T | CA516353799 | SYN1 | c.1722G>A (p.Pro574=) c.70+426G>A (n.70+426G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.47574263G>A | CA412822785 | SYN1 | c.1721C>T (p.Pro574Leu) c.70+425C>T (n.70+425C>T) | ClinVar gnomAD v4 |
| X | g.47574263G>C | CA412822787 | SYN1 | c.1721C>G (p.Pro574Arg) c.70+425C>G (n.70+425C>G) | |
| X | g.47574263G>T | CA412822788 | SYN1 | c.1721C>A (p.Pro574Gln) c.70+425C>A (n.70+425C>A) | dbSNP gnomAD v4 |
| X | g.47574264G>A | CA412822790 | SYN1 | c.1720C>T (p.Pro574Ser) c.70+424C>T (n.70+424C>T) | gnomAD v4 |
| X | g.47574264G>C | CA412822791 | SYN1 | c.1720C>G (p.Pro574Ala) c.70+424C>G (n.70+424C>G) | |
| X | g.47574264G= | CA2427971240 | SYN1 | c.1720C= (p.Pro574=) c.70+424C= (n.70+424C=) | |
| X | g.47574264G>T | CA412822793 | SYN1 | c.1720C>A (p.Pro574Thr) c.70+424C>A (n.70+424C>A) | dbSNP gnomAD v4 |
| X | g.47574265A>C | CA516353804 | SYN1 | c.1719T>G (p.Ala573=) c.70+423T>G (n.70+423T>G) | |
| X | g.47574265A>G | CA516353806 | SYN1 | c.1719T>C (p.Ala573=) c.70+423T>C (n.70+423T>C) | gnomAD v4 |
| X | g.47574265A>T | CA516353807 | SYN1 | c.1719T>A (p.Ala573=) c.70+423T>A (n.70+423T>A) | |
| X | g.47574266G>A | CA412822795 | SYN1 | c.1718C>T (p.Ala573Val) c.70+422C>T (n.70+422C>T) | ClinVar gnomAD v4 |
| X | g.47574266G>C | CA412822796 | SYN1 | c.1718C>G (p.Ala573Gly) c.70+422C>G (n.70+422C>G) | gnomAD v4 |
| X | g.47574266G>T | CA412822797 | SYN1 | c.1718C>A (p.Ala573Asp) c.70+422C>A (n.70+422C>A) | gnomAD v4 |
| X | g.47574267C>A | CA412822798 | SYN1 | c.1717G>T (p.Ala573Ser) c.70+421G>T (n.70+421G>T) | gnomAD v4 |
| X | g.47574267C>G | CA412822799 | SYN1 | c.1717G>C (p.Ala573Pro) c.70+421G>C (n.70+421G>C) | gnomAD v4 |
| X | g.47574267C>T | CA412822801 | SYN1 | c.1717G>A (p.Ala573Thr) c.70+421G>A (n.70+421G>A) | gnomAD v4 |
| X | g.47574268C>A | CA516353814 | SYN1 | c.1716G>T (p.Pro572=) c.70+420G>T (n.70+420G>T) | gnomAD v4 |
| X | g.47574268C>G | CA516353817 | SYN1 | c.1716G>C (p.Pro572=) c.70+420G>C (n.70+420G>C) | gnomAD v4 |
| X | g.47574268C>T | CA516353816 | SYN1 | c.1716G>A (p.Pro572=) c.70+420G>A (n.70+420G>A) | gnomAD v4 |
| X | g.47574269G>A | CA412822803 | SYN1 | c.1715C>T (p.Pro572Leu) c.70+419C>T (n.70+419C>T) | gnomAD v4 |
| X | g.47574269G>C | CA412822806 | SYN1 | c.1715C>G (p.Pro572Arg) c.70+419C>G (n.70+419C>G) | gnomAD v4 |
| X | g.47574269G= | CA2427971241 | SYN1 | c.1715C= (p.Pro572=) c.70+419C= (n.70+419C=) | |
| X | g.47574269G>T | CA412822805 | SYN1 | c.1715C>A (p.Pro572Gln) c.70+419C>A (n.70+419C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.47574271del | CA2820775723 | SYN1 | c.1715del (p.Pro572ArgfsTer?) c.70+419del (n.70+419del) | |
| X | g.47574270G>A | CA412822807 | SYN1 | c.1714C>T (p.Pro572Ser) c.70+418C>T (n.70+418C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.47574270G>C | CA412822809 | SYN1 | c.1714C>G (p.Pro572Ala) c.70+418C>G (n.70+418C>G) | |
| X | g.47574270G= | CA2427971242 | SYN1 | c.1714C= (p.Pro572=) c.70+418C= (n.70+418C=) | |
| X | g.47574270G>T | CA412822810 | SYN1 | c.1714C>A (p.Pro572Thr) c.70+418C>A (n.70+418C>A) | gnomAD v4 |
| X | g.47574271G>A | CA516353822 | SYN1 | c.1713C>T (p.Gly571=) c.70+417C>T (n.70+417C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47574271G>C | CA516353824 | SYN1 | c.1713C>G (p.Gly571=) c.70+417C>G (n.70+417C>G) | gnomAD v4 |
| X | g.47574271G= | CA2427971243 | SYN1 | c.1713C= (p.Gly571=) c.70+417C= (n.70+417C=) | |
| X | g.47574271G>T | CA516353825 | SYN1 | c.1713C>A (p.Gly571=) c.70+417C>A (n.70+417C>A) | gnomAD v4 |
| X | g.47574272C>A | CA412822812 | SYN1 | c.1712G>T (p.Gly571Val) c.70+416G>T (n.70+416G>T) | gnomAD v4 |
| X | g.47574272C>G | CA412822814 | SYN1 | c.1712G>C (p.Gly571Ala) c.70+416G>C (n.70+416G>C) | gnomAD v4 |
| X | g.47574272C>T | CA412822815 | SYN1 | c.1712G>A (p.Gly571Asp) c.70+416G>A (n.70+416G>A) | gnomAD v4 |
| X | g.47574273C>A | CA412822817 | SYN1 | c.1711G>T (p.Gly571Cys) c.70+415G>T (n.70+415G>T) | gnomAD v4 |
| X | g.47574273C= | CA2427971244 | SYN1 | c.1711G= (p.Gly571=) c.70+415G= (n.70+415G=) | |
| X | g.47574273C>G | CA412822818 | SYN1 | c.1711G>C (p.Gly571Arg) c.70+415G>C (n.70+415G>C) | |
| X | g.47574273C>T | CA412822820 | SYN1 | c.1711G>A (p.Gly571Ser) c.70+415G>A (n.70+415G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.47574274A>C | CA516353830 | SYN1 | c.1710T>G (p.Ser570=) c.70+414T>G (n.70+414T>G) | |
| X | g.47574274A>G | CA516353831 | SYN1 | c.1710T>C (p.Ser570=) c.70+414T>C (n.70+414T>C) | gnomAD v4 |
| X | g.47574274A>T | CA516353832 | SYN1 | c.1710T>A (p.Ser570=) c.70+414T>A (n.70+414T>A) | gnomAD v4 |
| X | g.47574275G>A | CA412822825 | SYN1 | c.1709C>T (p.Ser570Phe) c.70+413C>T (n.70+413C>T) | gnomAD v4 |
| X | g.47574275G>C | CA412822823 | SYN1 | c.1709C>G (p.Ser570Cys) c.70+413C>G (n.70+413C>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.47574275G= | CA2427971245 | SYN1 | c.1709C= (p.Ser570=) c.70+413C= (n.70+413C=) | |
| X | g.47574275G>T | CA412822822 | SYN1 | c.1709C>A (p.Ser570Tyr) c.70+413C>A (n.70+413C>A) | |
| X | g.47574276A>C | CA412822826 | SYN1 | c.1708T>G (p.Ser570Ala) c.70+412T>G (n.70+412T>G) | |
| X | g.47574276A>G | CA412822828 | SYN1 | c.1708T>C (p.Ser570Pro) c.70+412T>C (n.70+412T>C) | gnomAD v4 |
| X | g.47574276A>T | CA412822829 | SYN1 | c.1708T>A (p.Ser570Thr) c.70+412T>A (n.70+412T>A) | gnomAD v4 |
| X | g.47574277G>A | CA329057236 | SYN1 | c.1707C>T (p.Val569=) c.70+411C>T (n.70+411C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.47574277G>C | CA516353837 | SYN1 | c.1707C>G (p.Val569=) c.70+411C>G (n.70+411C>G) | gnomAD v4 |
| X | g.47574277G= | CA2427971246 | SYN1 | c.1707C= (p.Val569=) c.70+411C= (n.70+411C=) | |
| X | g.47574277G>T | CA516353836 | SYN1 | c.1707C>A (p.Val569=) c.70+411C>A (n.70+411C>A) | gnomAD v4 |
| X | g.47574278A>C | CA412822830 | SYN1 | c.1706T>G (p.Val569Gly) c.70+410T>G (n.70+410T>G) | |
| X | g.47574278A>G | CA412822832 | SYN1 | c.1706T>C (p.Val569Ala) c.70+410T>C (n.70+410T>C) | gnomAD v4 |
| X | g.47574278A>T | CA412822833 | SYN1 | c.1706T>A (p.Val569Asp) c.70+410T>A (n.70+410T>A) | |
| X | g.47574279C>A | CA412822835 | SYN1 | c.1705G>T (p.Val569Phe) c.70+409G>T (n.70+409G>T) | gnomAD v4 |
| X | g.47574279C>G | CA412822836 | SYN1 | c.1705G>C (p.Val569Leu) c.70+409G>C (n.70+409G>C) | |
| X | g.47574279C>T | CA412822838 | SYN1 | c.1705G>A (p.Val569Ile) c.70+409G>A (n.70+409G>A) | gnomAD v4 |
| X | g.47574280G>A | CA516353841 | SYN1 | c.1704C>T (p.Ser568=) c.70+408C>T (n.70+408C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.47574280G>C | CA516353842 | SYN1 | c.1704C>G (p.Ser568=) c.70+408C>G (n.70+408C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.47574280G= | CA2427971247 | SYN1 | c.1704C= (p.Ser568=) c.70+408C= (n.70+408C=) | |
| X | g.47574280G>T | CA516353843 | SYN1 | c.1704C>A (p.Ser568=) c.70+408C>A (n.70+408C>A) | gnomAD v4 |
| X | g.47574281G>A | CA412822840 | SYN1 | c.1703C>T (p.Ser568Phe) c.70+407C>T (n.70+407C>T) | |
| X | g.47574281G>C | CA412822841 | SYN1 | c.1703C>G (p.Ser568Cys) c.70+407C>G (n.70+407C>G) | |
| X | g.47574281G>T | CA412822843 | SYN1 | c.1703C>A (p.Ser568Tyr) c.70+407C>A (n.70+407C>A) | gnomAD v4 |
| X | g.47574282A>C | CA412822848 | SYN1 | c.1702T>G (p.Ser568Ala) c.70+406T>G (n.70+406T>G) | |
| X | g.47574282A>G | CA412822844 | SYN1 | c.1702T>C (p.Ser568Pro) c.70+406T>C (n.70+406T>C) | gnomAD v4 |
| X | g.47574282A>T | CA412822846 | SYN1 | c.1702T>A (p.Ser568Thr) c.70+406T>A (n.70+406T>A) | |
| X | g.47574283T>A | CA10398347 | SYN1 | c.1701A>T (p.Thr567=) c.70+405A>T (n.70+405A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47574283T>C | CA516353847 | SYN1 | c.1701A>G (p.Thr567=) c.70+405A>G (n.70+405A>G) | gnomAD v4 |
| X | g.47574283T>G | CA516353849 | SYN1 | c.1701A>C (p.Thr567=) c.70+405A>C (n.70+405A>C) | gnomAD v4 |
| X | g.47574283T= | CA2427971248 | SYN1 | c.1701A= (p.Thr567=) c.70+405A= (n.70+405A=) | |
| X | g.47574284G>A | CA412822850 | SYN1 | c.1700C>T (p.Thr567Ile) c.70+404C>T (n.70+404C>T) | gnomAD v4 |
| X | g.47574284G>C | CA412822851 | SYN1 | c.1700C>G (p.Thr567Arg) c.70+404C>G (n.70+404C>G) | |
| X | g.47574284G>T | CA412822852 | SYN1 | c.1700C>A (p.Thr567Lys) c.70+404C>A (n.70+404C>A) | gnomAD v4 |
| X | g.47574285T>A | CA412822854 | SYN1 | c.1699A>T (p.Thr567Ser) c.70+403A>T (n.70+403A>T) | gnomAD v4 |
| X | g.47574285T>C | CA130889 | SYN1 | c.1699A>G (p.Thr567Ala) c.70+403A>G (n.70+403A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.47574285T>G | CA412822856 | SYN1 | c.1699A>C (p.Thr567Pro) c.70+403A>C (n.70+403A>C) | |
| X | g.47574285T= | CA2427971249 | SYN1 | c.1699A= (p.Thr567=) c.70+403A= (n.70+403A=) | |
| X | g.47574286C>A | CA412822857 | SYN1 | c.1698G>T (p.Gln566His) c.70+402G>T (n.70+402G>T) | gnomAD v4 |
| X | g.47574286C>G | CA412822859 | SYN1 | c.1698G>C (p.Gln566His) c.70+402G>C (n.70+402G>C) | gnomAD v4 |
| X | g.47574286C>T | CA516353856 | SYN1 | c.1698G>A (p.Gln566=) c.70+402G>A (n.70+402G>A) | gnomAD v4 |
| X | g.47574287T>A | CA412822860 | SYN1 | c.1697A>T (p.Gln566Leu) c.70+401A>T (n.70+401A>T) | gnomAD v4 |
| X | g.47574287T>C | CA412822861 | SYN1 | c.1697A>G (p.Gln566Arg) c.70+401A>G (n.70+401A>G) | gnomAD v4 |
| X | g.47574287T>G | CA412822863 | SYN1 | c.1697A>C (p.Gln566Pro) c.70+401A>C (n.70+401A>C) | gnomAD v4 |
| X | g.47574288G>A | CA412822868 | SYN1 | c.1696C>T (p.Gln566Ter) c.70+400C>T (n.70+400C>T) | |
| X | g.47574288G>C | CA412822867 | SYN1 | c.1696C>G (p.Gln566Glu) c.70+400C>G (n.70+400C>G) | |
| X | g.47574288G>T | CA412822865 | SYN1 | c.1696C>A (p.Gln566Lys) c.70+400C>A (n.70+400C>A) | gnomAD v4 |
| X | g.47574289A>C | CA516353860 | SYN1 | c.1695T>G (p.Arg565=) c.70+399T>G (n.70+399T>G) | |
| X | g.47574289A>G | CA516353862 | SYN1 | c.1695T>C (p.Arg565=) c.70+399T>C (n.70+399T>C) | gnomAD v4 |
| X | g.47574289A>T | CA516353863 | SYN1 | c.1695T>A (p.Arg565=) c.70+399T>A (n.70+399T>A) | gnomAD v4 |
| X | g.47574290C>A | CA412822871 | SYN1 | c.1694G>T (p.Arg565Leu) c.70+398G>T (n.70+398G>T) | gnomAD v4 |
| X | g.47574290C>G | CA412822869 | SYN1 | c.1694G>C (p.Arg565Pro) c.70+398G>C (n.70+398G>C) | gnomAD v4 |
| X | g.47574290C>T | CA412822872 | SYN1 | c.1694G>A (p.Arg565His) c.70+398G>A (n.70+398G>A) | gnomAD v4 |
| X | g.47574291G>A | CA412822874 | SYN1 | c.1693C>T (p.Arg565Cys) c.70+397C>T (n.70+397C>T) | dbSNP gnomAD v4 |
| X | g.47574291G>C | CA412822875 | SYN1 | c.1693C>G (p.Arg565Gly) c.70+397C>G (n.70+397C>G) | |
| X | g.47574291G= | CA2427971250 | SYN1 | c.1693C= (p.Arg565=) c.70+397C= (n.70+397C=) | |
| X | g.47574291G>T | CA412822877 | SYN1 | c.1693C>A (p.Arg565Ser) c.70+397C>A (n.70+397C>A) | gnomAD v4 |
| X | g.47574292G>A | CA516353867 | SYN1 | c.1692C>T (p.Thr564=) c.70+396C>T (n.70+396C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47574292G>C | CA516353868 | SYN1 | c.1692C>G (p.Thr564=) c.70+396C>G (n.70+396C>G) | |
| X | g.47574292G= | CA2427971251 | SYN1 | c.1692C= (p.Thr564=) c.70+396C= (n.70+396C=) | |
| X | g.47574292G>T | CA516353870 | SYN1 | c.1692C>A (p.Thr564=) c.70+396C>A (n.70+396C>A) | gnomAD v4 |
| X | g.47574293G>A | CA412822879 | SYN1 | c.1691C>T (p.Thr564Ile) c.70+395C>T (n.70+395C>T) | gnomAD v4 |
| X | g.47574293G>C | CA412822880 | SYN1 | c.1691C>G (p.Thr564Ser) c.70+395C>G (n.70+395C>G) | |
| X | g.47574293G>T | CA412822882 | SYN1 | c.1691C>A (p.Thr564Asn) c.70+395C>A (n.70+395C>A) | gnomAD v4 |
| X | g.47574294T>A | CA412822884 | SYN1 | c.1690A>T (p.Thr564Ser) c.70+394A>T (n.70+394A>T) | |
| X | g.47574294T>C | CA412822885 | SYN1 | c.1690A>G (p.Thr564Ala) c.70+394A>G (n.70+394A>G) | gnomAD v4 |
| X | g.47574294T>G | CA412822887 | SYN1 | c.1690A>C (p.Thr564Pro) c.70+394A>C (n.70+394A>C) | |
| X | g.47574295A>C | CA516353873 | SYN1 | c.1689T>G (p.Ala563=) c.70+393T>G (n.70+393T>G) | |
| X | g.47574295A>G | CA516353874 | SYN1 | c.1689T>C (p.Ala563=) c.70+393T>C (n.70+393T>C) | gnomAD v4 |
| X | g.47574295A>T | CA516353875 | SYN1 | c.1689T>A (p.Ala563=) c.70+393T>A (n.70+393T>A) | gnomAD v4 |
| X | g.47574296G>A | CA412822888 | SYN1 | c.1688C>T (p.Ala563Val) c.70+392C>T (n.70+392C>T) | gnomAD v4 |
| X | g.47574296G>C | CA412822890 | SYN1 | c.1688C>G (p.Ala563Gly) c.70+392C>G (n.70+392C>G) | |
| X | g.47574296G>T | CA412822891 | SYN1 | c.1688C>A (p.Ala563Asp) c.70+392C>A (n.70+392C>A) | gnomAD v4 |
| X | g.47574297C>A | CA412822895 | SYN1 | c.1687G>T (p.Ala563Ser) c.70+391G>T (n.70+391G>T) | gnomAD v4 |
| X | g.47574297C>G | CA412822892 | SYN1 | c.1687G>C (p.Ala563Pro) c.70+391G>C (n.70+391G>C) | |
| X | g.47574297C>T | CA412822894 | SYN1 | c.1687G>A (p.Ala563Thr) c.70+391G>A (n.70+391G>A) | gnomAD v4 |
| X | g.47574298C>A | CA412822896 | SYN1 | c.1686G>T (p.Gln562His) c.70+390G>T (n.70+390G>T) | gnomAD v4 |
| X | g.47574298C>G | CA412822897 | SYN1 | c.1686G>C (p.Gln562His) c.70+390G>C (n.70+390G>C) | |
| X | g.47574298C>T | CA516353877 | SYN1 | c.1686G>A (p.Gln562=) c.70+390G>A (n.70+390G>A) | gnomAD v4 |
| X | g.47574299T>A | CA412822898 | SYN1 | c.1685A>T (p.Gln562Leu) c.70+389A>T (n.70+389A>T) | |
| X | g.47574299T>C | CA412822899 | SYN1 | c.1685A>G (p.Gln562Arg) c.70+389A>G (n.70+389A>G) | gnomAD v4 |
| X | g.47574299T>G | CA412822900 | SYN1 | c.1685A>C (p.Gln562Pro) c.70+389A>C (n.70+389A>C) | |
| X | g.47574300G>A | CA412822901 | SYN1 | c.1684C>T (p.Gln562Ter) c.70+388C>T (n.70+388C>T) | gnomAD v4 |
| X | g.47574300G>C | CA412822902 | SYN1 | c.1684C>G (p.Gln562Glu) c.70+388C>G (n.70+388C>G) | |
| X | g.47574300G>T | CA412822904 | SYN1 | c.1684C>A (p.Gln562Lys) c.70+388C>A (n.70+388C>A) | gnomAD v4 |
| X | g.47574301T>A | CA516353881 | SYN1 | c.1683A>T (p.Pro561=) c.70+387A>T (n.70+387A>T) | gnomAD v4 |
| X | g.47574301T>C | CA516353882 | SYN1 | c.1683A>G (p.Pro561=) c.70+387A>G (n.70+387A>G) | ClinVar dbSNP gnomAD v4 |
| X | g.47574301T>G | CA516353883 | SYN1 | c.1683A>C (p.Pro561=) c.70+387A>C (n.70+387A>C) | gnomAD v4 |
| X | g.47574302G>A | CA412822905 | SYN1 | c.1682C>T (p.Pro561Leu) c.70+386C>T (n.70+386C>T) | gnomAD v4 |
| X | g.47574302G>C | CA412822906 | SYN1 | c.1682C>G (p.Pro561Arg) c.70+386C>G (n.70+386C>G) | ClinVar dbSNP gnomAD v4 |
| X | g.47574302G>T | CA412822907 | SYN1 | c.1682C>A (p.Pro561Gln) c.70+386C>A (n.70+386C>A) | gnomAD v4 |
| X | g.47574307dup | CA641900875 | SYN1 | c.1682dup (p.Gln562ThrfsTer?) c.70+386dup (n.70+386dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.47574307del | CA641900874 | SYN1 | c.1682del (p.Pro561HisfsTer?) c.70+386del (n.70+386del) | gnomAD v2 gnomAD v4 |
| X | g.47574303G>A | CA412822911 | SYN1 | c.1681C>T (p.Pro561Ser) c.70+385C>T (n.70+385C>T) | gnomAD v4 |
| X | g.47574303G>C | CA412822913 | SYN1 | c.1681C>G (p.Pro561Ala) c.70+385C>G (n.70+385C>G) | |
| X | g.47574303G>T | CA412822909 | SYN1 | c.1681C>A (p.Pro561Thr) c.70+385C>A (n.70+385C>A) | gnomAD v4 |
| X | g.47574304G>A | CA516353885 | SYN1 | c.1680C>T (p.Pro560=) c.70+384C>T (n.70+384C>T) | gnomAD v4 |
| X | g.47574304G>C | CA516353886 | SYN1 | c.1680C>G (p.Pro560=) c.70+384C>G (n.70+384C>G) | |
| X | g.47574304G>T | CA516353887 | SYN1 | c.1680C>A (p.Pro560=) c.70+384C>A (n.70+384C>A) | ClinVar gnomAD v4 |
| X | g.47574305G>A | CA412822914 | SYN1 | c.1679C>T (p.Pro560Leu) c.70+383C>T (n.70+383C>T) | gnomAD v4 |
| X | g.47574305G>C | CA412822916 | SYN1 | c.1679C>G (p.Pro560Arg) c.70+383C>G (n.70+383C>G) | gnomAD v4 |
| X | g.47574305G>T | CA412822917 | SYN1 | c.1679C>A (p.Pro560His) c.70+383C>A (n.70+383C>A) | gnomAD v4 |
| X | g.47574306G>A | CA412822920 | SYN1 | c.1678C>T (p.Pro560Ser) c.70+382C>T (n.70+382C>T) | gnomAD v4 |
| X | g.47574306G>C | CA412822921 | SYN1 | c.1678C>G (p.Pro560Ala) c.70+382C>G (n.70+382C>G) | |
| X | g.47574306G= | CA2427971252 | SYN1 | c.1678C= (p.Pro560=) c.70+382C= (n.70+382C=) | |
| X | g.47574306G>T | CA412822923 | SYN1 | c.1678C>A (p.Pro560Thr) c.70+382C>A (n.70+382C>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.47574307G>A | CA516353891 | SYN1 | c.1677C>T (p.Gly559=) c.70+381C>T (n.70+381C>T) | ClinVar dbSNP gnomAD v4 |
| X | g.47574307G>C | CA516353892 | SYN1 | c.1677C>G (p.Gly559=) c.70+381C>G (n.70+381C>G) | ClinVar dbSNP |
| X | g.47574307G>T | CA516353893 | SYN1 | c.1677C>A (p.Gly559=) c.70+381C>A (n.70+381C>A) | gnomAD v4 |
| X | g.47574308C>A | CA412822924 | SYN1 | c.1676G>T (p.Gly559Val) c.70+380G>T (n.70+380G>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.47574308C= | CA2427971253 | SYN1 | c.1676G= (p.Gly559=) c.70+380G= (n.70+380G=) | |
| X | g.47574308C>G | CA412822926 | SYN1 | c.1676G>C (p.Gly559Ala) c.70+380G>C (n.70+380G>C) | gnomAD v4 |
| X | g.47574308C>T | CA412822927 | SYN1 | c.1676G>A (p.Gly559Asp) c.70+380G>A (n.70+380G>A) | gnomAD v4 |
| X | g.47574309C>A | CA412822929 | SYN1 | c.1675G>T (p.Gly559Cys) c.70+379G>T (n.70+379G>T) | gnomAD v4 |
| X | g.47574309C>G | CA412822930 | SYN1 | c.1675G>C (p.Gly559Arg) c.70+379G>C (n.70+379G>C) | |
| X | g.47574309C>T | CA412822932 | SYN1 | c.1675G>A (p.Gly559Ser) c.70+379G>A (n.70+379G>A) | gnomAD v4 |
| X | g.47574310C>A | CA516353897 | SYN1 | c.1674G>T (p.Ala558=) c.70+378G>T (n.70+378G>T) | gnomAD v4 |
| X | g.47574310C= | CA2427971254 | SYN1 | c.1674G= (p.Ala558=) c.70+378G= (n.70+378G=) | |
| X | g.47574310C>G | CA516353898 | SYN1 | c.1674G>C (p.Ala558=) c.70+378G>C (n.70+378G>C) | |
| X | g.47574310C>T | CA516353899 | SYN1 | c.1674G>A (p.Ala558=) c.70+378G>A (n.70+378G>A) | dbSNP gnomAD v4 |
| X | g.47574311G>A | CA412822936 | SYN1 | c.1673C>T (p.Ala558Val) c.70+377C>T (n.70+377C>T) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.47574311G>C | CA412822937 | SYN1 | c.1673C>G (p.Ala558Gly) c.70+377C>G (n.70+377C>G) | gnomAD v4 |
| X | g.47574311G>T | CA412822935 | SYN1 | c.1673C>A (p.Ala558Glu) c.70+377C>A (n.70+377C>A) | gnomAD v4 |
| X | g.47574312C>A | CA412822939 | SYN1 | c.1672G>T (p.Ala558Ser) c.70+376G>T (n.70+376G>T) | gnomAD v4 |
| X | g.47574312C= | CA2427971255 | SYN1 | c.1672G= (p.Ala558=) c.70+376G= (n.70+376G=) | |
| X | g.47574312C>G | CA412822941 | SYN1 | c.1672G>C (p.Ala558Pro) c.70+376G>C (n.70+376G>C) | |
| X | g.47574312C>T | CA412822942 | SYN1 | c.1672G>A (p.Ala558Thr) c.70+376G>A (n.70+376G>A) | dbSNP |
| X | g.47574313C>A | CA412822944 | SYN1 | c.1671G>T (p.Gln557His) c.70+375G>T (n.70+375G>T) | gnomAD v4 |
| X | g.47574313C>G | CA412822946 | SYN1 | c.1671G>C (p.Gln557His) c.70+375G>C (n.70+375G>C) | |
| X | g.47574313C>T | CA516353902 | SYN1 | c.1671G>A (p.Gln557=) c.70+375G>A (n.70+375G>A) | |
| X | g.47574314T>A | CA412822951 | SYN1 | c.1670A>T (p.Gln557Leu) c.70+374A>T (n.70+374A>T) | |
| X | g.47574314T>C | CA412822947 | SYN1 | c.1670A>G (p.Gln557Arg) c.70+374A>G (n.70+374A>G) | gnomAD v4 |
| X | g.47574314T>G | CA412822949 | SYN1 | c.1670A>C (p.Gln557Pro) c.70+374A>C (n.70+374A>C) | |
| X | g.47574315G>A | CA412822953 | SYN1 | c.1669C>T (p.Gln557Ter) c.70+373C>T (n.70+373C>T) | gnomAD v4 |
| X | g.47574315G>C | CA412822955 | SYN1 | c.1669C>G (p.Gln557Glu) c.70+373C>G (n.70+373C>G) | |
| X | g.47574315G>T | CA412822958 | SYN1 | c.1669C>A (p.Gln557Lys) c.70+373C>A (n.70+373C>A) | |
| X | g.47574316del | CA2693585148 | SYN1 | c.1669del (p.Gln557ArgfsTer?) c.70+373del (n.70+373del) | gnomAD v4 |
| X | g.47574316G>A | CA516353903 | SYN1 | c.1668C>T (p.Arg556=) c.70+372C>T (n.70+372C>T) | gnomAD v4 |
| X | g.47574316G>C | CA516353904 | SYN1 | c.1668C>G (p.Arg556=) c.70+372C>G (n.70+372C>G) | |
| X | g.47574316G= | CA2427971256 | SYN1 | c.1668C= (p.Arg556=) c.70+372C= (n.70+372C=) | |
| X | g.47574316G>T | CA516353905 | SYN1 | c.1668C>A (p.Arg556=) c.70+372C>A (n.70+372C>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.47574317C>A | CA412822959 | SYN1 | c.1667G>T (p.Arg556Leu) c.70+371G>T (n.70+371G>T) | ClinVar dbSNP gnomAD v4 |
| X | g.47574317C= | CA2427971257 | SYN1 | c.1667G= (p.Arg556=) c.70+371G= (n.70+371G=) | |
| X | g.47574317C>G | CA329057253 | SYN1 | c.1667G>C (p.Arg556Pro) c.70+371G>C (n.70+371G>C) | dbSNP |
| X | g.47574317C>T | CA412822961 | SYN1 | c.1667G>A (p.Arg556His) c.70+371G>A (n.70+371G>A) | gnomAD v4 |
| X | g.47574318G>A | CA412822965 | SYN1 | c.1666C>T (p.Arg556Cys) c.70+370C>T (n.70+370C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.47574318G>C | CA412822966 | SYN1 | c.1666C>G (p.Arg556Gly) c.70+370C>G (n.70+370C>G) | |
| X | g.47574318G= | CA2427971258 | SYN1 | c.1666C= (p.Arg556=) c.70+370C= (n.70+370C=) | |
| X | g.47574318G>T | CA412822963 | SYN1 | c.1666C>A (p.Arg556Ser) c.70+370C>A (n.70+370C>A) | dbSNP gnomAD v4 |
| X | g.47574319C>A | CA318964 | SYN1 | c.1665G>T (p.Gln555His) c.70+369G>T (n.70+369G>T) | ClinVar dbSNP gnomAD v4 |
| X | g.47574319C= | CA2427971259 | SYN1 | c.1665G= (p.Gln555=) c.70+369G= (n.70+369G=) | |
| X | g.47574319C>G | CA412822968 | SYN1 | c.1665G>C (p.Gln555His) c.70+369G>C (n.70+369G>C) | gnomAD v4 |
| X | g.47574319C>T | CA516353909 | SYN1 | c.1665G>A (p.Gln555=) c.70+369G>A (n.70+369G>A) | gnomAD v4 |
| X | g.47574320T>A | CA412822970 | SYN1 | c.1664A>T (p.Gln555Leu) c.70+368A>T (n.70+368A>T) | |
| X | g.47574320T>C | CA412822972 | SYN1 | c.1664A>G (p.Gln555Arg) c.70+368A>G (n.70+368A>G) | gnomAD v4 |
| X | g.47574320T>G | CA412822973 | SYN1 | c.1664A>C (p.Gln555Pro) c.70+368A>C (n.70+368A>C) | |
| X | g.47574320_47574321delinsTG | CA2427971260 | SYN1 | c.1663_1664delinsCA (p.Gln555=) c.70+367_70+368delinsCA (n.70+367_70+368delinsCA) | |
| X | g.47574321G>A | CA130885 | SYN1 | c.1663C>T (p.Gln555Ter) c.70+367C>T (n.70+367C>T) | ClinVar dbSNP gnomAD v4 |
| X | g.47574321G>C | CA412822976 | SYN1 | c.1663C>G (p.Gln555Glu) c.70+367C>G (n.70+367C>G) | |
| X | g.47574321G= | CA2427971261 | SYN1 | c.1663C= (p.Gln555=) c.70+367C= (n.70+367C=) | |
| X | g.47574321G>T | CA412822978 | SYN1 | c.1663C>A (p.Gln555Lys) c.70+367C>A (n.70+367C>A) | gnomAD v4 |
| X | g.47574324del | CA641900876 | SYN1 | c.1663del (p.Gln555SerfsTer?) c.70+367del (n.70+367del) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.47574322G>A | CA516353916 | SYN1 | c.1662C>T (p.Pro554=) c.70+366C>T (n.70+366C>T) | gnomAD v4 |
| X | g.47574322G>C | CA516353915 | SYN1 | c.1662C>G (p.Pro554=) c.70+366C>G (n.70+366C>G) | |
| X | g.47574322G= | CA2427971262 | SYN1 | c.1662C= (p.Pro554=) c.70+366C= (n.70+366C=) | |
| X | g.47574322G>T | CA516353914 | SYN1 | c.1662C>A (p.Pro554=) c.70+366C>A (n.70+366C>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.47574323G>A | CA412822979 | SYN1 | c.1661C>T (p.Pro554Leu) c.70+365C>T (n.70+365C>T) | gnomAD v4 |
| X | g.47574323G>C | CA412822980 | SYN1 | c.1661C>G (p.Pro554Arg) c.70+365C>G (n.70+365C>G) | |
| X | g.47574323G>T | CA412822982 | SYN1 | c.1661C>A (p.Pro554His) c.70+365C>A (n.70+365C>A) | gnomAD v4 |
| X | g.47574324G>A | CA412822985 | SYN1 | c.1660C>T (p.Pro554Ser) c.70+364C>T (n.70+364C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47574324G>C | CA412822986 | SYN1 | c.1660C>G (p.Pro554Ala) c.70+364C>G (n.70+364C>G) | |
| X | g.47574324G= | CA2427971263 | SYN1 | c.1660C= (p.Pro554=) c.70+364C= (n.70+364C=) | |
| X | g.47574324G>T | CA412822987 | SYN1 | c.1660C>A (p.Pro554Thr) c.70+364C>A (n.70+364C>A) | gnomAD v4 |
| X | g.47574325A>C | CA516353917 | SYN1 | c.1659T>G (p.Ser553=) c.70+363T>G (n.70+363T>G) | |
| X | g.47574325A>G | CA516353919 | SYN1 | c.1659T>C (p.Ser553=) c.70+363T>C (n.70+363T>C) | gnomAD v4 |
| X | g.47574325A>T | CA516353918 | SYN1 | c.1659T>A (p.Ser553=) c.70+363T>A (n.70+363T>A) | dbSNP gnomAD v4 |
| X | g.47574326G>A | CA412822992 | SYN1 | c.1658C>T (p.Ser553Phe) c.70+362C>T (n.70+362C>T) | gnomAD v4 |
| X | g.47574326G>C | CA412822991 | SYN1 | c.1658C>G (p.Ser553Cys) c.70+362C>G (n.70+362C>G) | |
| X | g.47574326G>T | CA412822989 | SYN1 | c.1658C>A (p.Ser553Tyr) c.70+362C>A (n.70+362C>A) | gnomAD v4 |
| X | g.47574327A= | CA2427971264 | SYN1 | c.1657T= (p.Ser553=) c.70+361T= (n.70+361T=) | |
| X | g.47574327A>C | CA412822994 | SYN1 | c.1657T>G (p.Ser553Ala) c.70+361T>G (n.70+361T>G) | |
| X | g.47574327A>G | CA412822995 | SYN1 | c.1657T>C (p.Ser553Pro) c.70+361T>C (n.70+361T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47574327A>T | CA412822997 | SYN1 | c.1657T>A (p.Ser553Thr) c.70+361T>A (n.70+361T>A) | |
| X | g.47574328del | CA2693585158 | SYN1 | c.1656del (p.Ser553LeufsTer?) c.70+360del (n.70+360del) | gnomAD v4 |
| X | g.47574328C>A | CA516353923 | SYN1 | c.1656G>T (p.Pro552=) c.70+360G>T (n.70+360G>T) | gnomAD v4 |
| X | g.47574328C= | CA2427971265 | SYN1 | c.1656G= (p.Pro552=) c.70+360G= (n.70+360G=) | |
| X | g.47574328C>G | CA516353924 | SYN1 | c.1656G>C (p.Pro552=) c.70+360G>C (n.70+360G>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.47574328C>T | CA329057256 | SYN1 | c.1656G>A (p.Pro552=) c.70+360G>A (n.70+360G>A) | dbSNP gnomAD v4 |
| X | g.47574329G>A | CA412822998 | SYN1 | c.1655C>T (p.Pro552Leu) c.70+359C>T (n.70+359C>T) | gnomAD v4 |
| X | g.47574329G>C | CA412822999 | SYN1 | c.1655C>G (p.Pro552Arg) c.70+359C>G (n.70+359C>G) | |
| X | g.47574329G>T | CA412823000 | SYN1 | c.1655C>A (p.Pro552Gln) c.70+359C>A (n.70+359C>A) | gnomAD v4 |
| X | g.47574330del | CA2697553085 | SYN1 | c.1655del (p.Pro552ArgfsTer?) c.70+359del (n.70+359del) | ClinVar |
| X | g.47574330G>A | CA412823002 | SYN1 | c.1654C>T (p.Pro552Ser) c.70+358C>T (n.70+358C>T) | ClinVar gnomAD v4 |
| X | g.47574330G>C | CA412823003 | SYN1 | c.1654C>G (p.Pro552Ala) c.70+358C>G (n.70+358C>G) | |
| X | g.47574330G>T | CA412823005 | SYN1 | c.1654C>A (p.Pro552Thr) c.70+358C>A (n.70+358C>A) | gnomAD v4 |
| X | g.47574331A= | CA2427971266 | SYN1 | c.1653T= (p.Ser551=) c.70+357T= (n.70+357T=) | |
| X | g.47574331A>C | CA516353928 | SYN1 | c.1653T>G (p.Ser551=) c.70+357T>G (n.70+357T>G) | |
| X | g.47574331A>G | CA516353929 | SYN1 | c.1653T>C (p.Ser551=) c.70+357T>C (n.70+357T>C) | gnomAD v4 |
| X | g.47574331A>T | CA516353930 | SYN1 | c.1653T>A (p.Ser551=) c.70+357T>A (n.70+357T>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.47574332G>A | CA412823007 | SYN1 | c.1652C>T (p.Ser551Phe) c.70+356C>T (n.70+356C>T) | gnomAD v4 |
| X | g.47574332G>C | CA412823008 | SYN1 | c.1652C>G (p.Ser551Cys) c.70+356C>G (n.70+356C>G) | |
| X | g.47574332G>T | CA412823010 | SYN1 | c.1652C>A (p.Ser551Tyr) c.70+356C>A (n.70+356C>A) | gnomAD v4 |
| X | g.47574333A>C | CA412823012 | SYN1 | c.1651T>G (p.Ser551Ala) c.70+355T>G (n.70+355T>G) | |
| X | g.47574333A>G | CA412823013 | SYN1 | c.1651T>C (p.Ser551Pro) c.70+355T>C (n.70+355T>C) | gnomAD v4 |
| X | g.47574333A>T | CA412823015 | SYN1 | c.1651T>A (p.Ser551Thr) c.70+355T>A (n.70+355T>A) | |
| X | g.47574333_47574337delinsAGGCG | CA2427971267 | SYN1 | c.1647_1651delinsCGCCT (p.Pro549=) c.70+351_70+355delinsCGCCT (n.70+351_70+355delinsCGCCT) | |
| X | g.47574334G>A | CA516353934 | SYN1 | c.1650C>T (p.Ala550=) c.70+354C>T (n.70+354C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.47574334G>C | CA516353935 | SYN1 | c.1650C>G (p.Ala550=) c.70+354C>G (n.70+354C>G) | |
| X | g.47574334G= | CA2427971268 | SYN1 | c.1650C= (p.Ala550=) c.70+354C= (n.70+354C=) | |
| X | g.47574334G>T | CA516353936 | SYN1 | c.1650C>A (p.Ala550=) c.70+354C>A (n.70+354C>A) | |
| X | g.47574345_47574348dup | CA2579596678 | SYN1 | c.1647_1650dup (p.Ser551ArgfsTer?) c.70+351_70+354dup (n.70+351_70+354dup) | ClinVar |
| X | g.47574345_47574348del | CA516353937 | SYN1 | c.1647_1650del (p.Ala550LeufsTer?) c.70+351_70+354del (n.70+351_70+354del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.47574335G>A | CA412823018 | SYN1 | c.1649C>T (p.Ala550Val) c.70+353C>T (n.70+353C>T) | gnomAD v4 |
| X | g.47574335G>C | CA412823020 | SYN1 | c.1649C>G (p.Ala550Gly) c.70+353C>G (n.70+353C>G) | gnomAD v4 |
| X | g.47574335G>T | CA412823016 | SYN1 | c.1649C>A (p.Ala550Asp) c.70+353C>A (n.70+353C>A) | gnomAD v4 |
| X | g.47574335_47574336delinsAA | CA1139667510 | SYN1 | c.1648_1649delinsTT (p.Ala550Phe) c.70+352_70+353delinsTT (n.70+352_70+353delinsTT) | ClinVar dbSNP |
| X | g.47574335_47574336delinsGC | CA2427971269 | SYN1 | c.1648_1649delinsGC (p.Ala550=) c.70+352_70+353delinsGC (n.70+352_70+353delinsGC) | |
| X | g.47574336C>A | CA412823022 | SYN1 | c.1648G>T (p.Ala550Ser) c.70+352G>T (n.70+352G>T) | gnomAD v4 |
| X | g.47574336C= | CA2427971270 | SYN1 | c.1648G= (p.Ala550=) c.70+352G= (n.70+352G=) | |
| X | g.47574336C>G | CA329057259 | SYN1 | c.1648G>C (p.Ala550Pro) c.70+352G>C (n.70+352G>C) | dbSNP gnomAD v4 |
| X | g.47574336C>T | CA130887 | SYN1 | c.1648G>A (p.Ala550Thr) c.70+352G>A (n.70+352G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47574337G>A | CA516353941 | SYN1 | c.1647C>T (p.Pro549=) c.70+351C>T (n.70+351C>T) | ClinVar gnomAD v4 |
| X | g.47574337G>C | CA516353942 | SYN1 | c.1647C>G (p.Pro549=) c.70+351C>G (n.70+351C>G) | |
| X | g.47574337G>T | CA516353943 | SYN1 | c.1647C>A (p.Pro549=) c.70+351C>A (n.70+351C>A) | gnomAD v4 |
| X | g.47574338G>A | CA412823025 | SYN1 | c.1646C>T (p.Pro549Leu) c.70+350C>T (n.70+350C>T) | ClinVar gnomAD v4 |
| X | g.47574338G>C | CA412823027 | SYN1 | c.1646C>G (p.Pro549Arg) c.70+350C>G (n.70+350C>G) | |
| X | g.47574338G>T | CA412823028 | SYN1 | c.1646C>A (p.Pro549His) c.70+350C>A (n.70+350C>A) | gnomAD v4 |
| X | g.47574339G>A | CA412823030 | SYN1 | c.1645C>T (p.Pro549Ser) c.70+349C>T (n.70+349C>T) | gnomAD v4 |
| X | g.47574339G>C | CA412823032 | SYN1 | c.1645C>G (p.Pro549Ala) c.70+349C>G (n.70+349C>G) | |
| X | g.47574339G>T | CA412823033 | SYN1 | c.1645C>A (p.Pro549Thr) c.70+349C>A (n.70+349C>A) | gnomAD v4 |
| X | g.47574340C>A | CA516353944 | SYN1 | c.1644G>T (p.Pro548=) c.70+348G>T (n.70+348G>T) | gnomAD v4 |
| X | g.47574340C= | CA2427971271 | SYN1 | c.1644G= (p.Pro548=) c.70+348G= (n.70+348G=) | |
| X | g.47574340C>G | CA329057265 | SYN1 | c.1644G>C (p.Pro548=) c.70+348G>C (n.70+348G>C) | dbSNP |
| X | g.47574340C>T | CA516353945 | SYN1 | c.1644G>A (p.Pro548=) c.70+348G>A (n.70+348G>A) | gnomAD v4 |
| X | g.47574341G>A | CA412823035 | SYN1 | c.1643C>T (p.Pro548Leu) c.70+347C>T (n.70+347C>T) | gnomAD v4 |
| X | g.47574341G>C | CA412823037 | SYN1 | c.1643C>G (p.Pro548Arg) c.70+347C>G (n.70+347C>G) | |
| X | g.47574341G>T | CA412823038 | SYN1 | c.1643C>A (p.Pro548Gln) c.70+347C>A (n.70+347C>A) | |
| X | g.47574342G>A | CA412823041 | SYN1 | c.1642C>T (p.Pro548Ser) c.70+346C>T (n.70+346C>T) | gnomAD v4 |
| X | g.47574342G>C | CA412823039 | SYN1 | c.1642C>G (p.Pro548Ala) c.70+346C>G (n.70+346C>G) | gnomAD v4 |
| X | g.47574342G>T | CA412823040 | SYN1 | c.1642C>A (p.Pro548Thr) c.70+346C>A (n.70+346C>A) | |
| X | g.47574343G>A | CA516353946 | SYN1 | c.1641C>T (p.Arg547=) c.70+345C>T (n.70+345C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.47574343G>C | CA516353947 | SYN1 | c.1641C>G (p.Arg547=) c.70+345C>G (n.70+345C>G) | |
| X | g.47574343G>T | CA516353948 | SYN1 | c.1641C>A (p.Arg547=) c.70+345C>A (n.70+345C>A) | gnomAD v4 |
| X | g.47574344C>A | CA412823043 | SYN1 | c.1640G>T (p.Arg547Leu) c.70+344G>T (n.70+344G>T) | gnomAD v4 |
| X | g.47574344C= | CA2427971272 | SYN1 | c.1640G= (p.Arg547=) c.70+344G= (n.70+344G=) | |
| X | g.47574344C>G | CA329057267 | SYN1 | c.1640G>C (p.Arg547Pro) c.70+344G>C (n.70+344G>C) | dbSNP gnomAD v4 |
| X | g.47574344C>T | CA412823045 | SYN1 | c.1640G>A (p.Arg547His) c.70+344G>A (n.70+344G>A) | gnomAD v4 |
| X | g.47574345G>A | CA412823047 | SYN1 | c.1639C>T (p.Arg547Cys) c.70+343C>T (n.70+343C>T) | gnomAD v4 |
| X | g.47574345G>C | CA412823048 | SYN1 | c.1639C>G (p.Arg547Gly) c.70+343C>G (n.70+343C>G) | |
| X | g.47574345G>T | CA412823050 | SYN1 | c.1639C>A (p.Arg547Ser) c.70+343C>A (n.70+343C>A) | gnomAD v4 |
| X | g.47574346G>A | CA516353951 | SYN1 | c.1638C>T (p.Ala546=) c.70+342C>T (n.70+342C>T) | gnomAD v4 |
| X | g.47574346G>C | CA516353950 | SYN1 | c.1638C>G (p.Ala546=) c.70+342C>G (n.70+342C>G) | |
| X | g.47574346G>T | CA516353949 | SYN1 | c.1638C>A (p.Ala546=) c.70+342C>A (n.70+342C>A) | |
| X | g.47574347G>A | CA412823052 | SYN1 | c.1637C>T (p.Ala546Val) c.70+341C>T (n.70+341C>T) | gnomAD v4 |
| X | g.47574347G>C | CA412823053 | SYN1 | c.1637C>G (p.Ala546Gly) c.70+341C>G (n.70+341C>G) | |
| X | g.47574347G>T | CA412823054 | SYN1 | c.1637C>A (p.Ala546Asp) c.70+341C>A (n.70+341C>A) | gnomAD v4 |
| X | g.47574348C>A | CA412823055 | SYN1 | c.1636G>T (p.Ala546Ser) c.70+340G>T (n.70+340G>T) | gnomAD v4 |
| X | g.47574348C>G | CA412823056 | SYN1 | c.1636G>C (p.Ala546Pro) c.70+340G>C (n.70+340G>C) | |
| X | g.47574348C>T | CA412823057 | SYN1 | c.1636G>A (p.Ala546Thr) c.70+340G>A (n.70+340G>A) | gnomAD v4 |
| X | g.47574351_47574423del | CA2820775724 | SYN1 | c.1564_1636del (p.Ala522ProfsTer?) c.70+268_70+340del (n.70+268_70+340del) | |
| X | g.47574349T>A | CA516353952 | SYN1 | c.1635A>T (p.Ala545=) c.70+339A>T (n.70+339A>T) | |
| X | g.47574349T>C | CA516353953 | SYN1 | c.1635A>G (p.Ala545=) c.70+339A>G (n.70+339A>G) | gnomAD v3 gnomAD v4 |
| X | g.47574349T>G | CA516353954 | SYN1 | c.1635A>C (p.Ala545=) c.70+339A>C (n.70+339A>C) | |
| X | g.47574350del | CA2693585165 | SYN1 | c.1634del (p.Ala545GlufsTer?) c.70+338del (n.70+338del) | gnomAD v4 |
| X | g.47574350G>A | CA412823058 | SYN1 | c.1634C>T (p.Ala545Val) c.70+338C>T (n.70+338C>T) | gnomAD v4 |
| X | g.47574350G>C | CA412823059 | SYN1 | c.1634C>G (p.Ala545Gly) c.70+338C>G (n.70+338C>G) | |
| X | g.47574350G= | CA2427971273 | SYN1 | c.1634C= (p.Ala545=) c.70+338C= (n.70+338C=) | |
| X | g.47574350G>T | CA329057283 | SYN1 | c.1634C>A (p.Ala545Glu) c.70+338C>A (n.70+338C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47574351C>A | CA412823060 | SYN1 | c.1633G>T (p.Ala545Ser) c.70+337G>T (n.70+337G>T) | gnomAD v4 |
| X | g.47574351C>G | CA412823061 | SYN1 | c.1633G>C (p.Ala545Pro) c.70+337G>C (n.70+337G>C) | |
| X | g.47574351C>T | CA412823062 | SYN1 | c.1633G>A (p.Ala545Thr) c.70+337G>A (n.70+337G>A) | gnomAD v4 |
| X | g.47574352T>A | CA516353955 | SYN1 | c.1632A>T (p.Pro544=) c.70+336A>T (n.70+336A>T) | |
| X | g.47574352T>C | CA516353957 | SYN1 | c.1632A>G (p.Pro544=) c.70+336A>G (n.70+336A>G) | gnomAD v4 |
| X | g.47574352T>G | CA516353956 | SYN1 | c.1632A>C (p.Pro544=) c.70+336A>C (n.70+336A>C) | |
| X | g.47574353G>A | CA412823063 | SYN1 | c.1631C>T (p.Pro544Leu) c.70+335C>T (n.70+335C>T) | gnomAD v4 |
| X | g.47574353G>C | CA412823065 | SYN1 | c.1631C>G (p.Pro544Arg) c.70+335C>G (n.70+335C>G) | |
| X | g.47574353G>T | CA412823066 | SYN1 | c.1631C>A (p.Pro544Gln) c.70+335C>A (n.70+335C>A) | gnomAD v4 |
| X | g.47574354del | CA2693585166 | SYN1 | c.1631del (p.Pro544GlnfsTer?) c.70+335del (n.70+335del) | gnomAD v4 |
| X | g.47574354G>A | CA412823070 | SYN1 | c.1630C>T (p.Pro544Ser) c.70+334C>T (n.70+334C>T) | |
| X | g.47574354G>C | CA412823068 | SYN1 | c.1630C>G (p.Pro544Ala) c.70+334C>G (n.70+334C>G) | |
| X | g.47574354G>T | CA412823067 | SYN1 | c.1630C>A (p.Pro544Thr) c.70+334C>A (n.70+334C>A) | |
| X | g.47574355A= | CA2427971274 | SYN1 | c.1629T= (p.Pro543=) c.70+333T= (n.70+333T=) | |
| X | g.47574355A>C | CA516353958 | SYN1 | c.1629T>G (p.Pro543=) c.70+333T>G (n.70+333T>G) | gnomAD v4 |
| X | g.47574355A>G | CA329057288 | SYN1 | c.1629T>C (p.Pro543=) c.70+333T>C (n.70+333T>C) | ClinVar dbSNP gnomAD v4 |
| X | g.47574355A>T | CA516353959 | SYN1 | c.1629T>A (p.Pro543=) c.70+333T>A (n.70+333T>A) | |
| X | g.47574356G>A | CA412823071 | SYN1 | c.1628C>T (p.Pro543Leu) c.70+332C>T (n.70+332C>T) | |
| X | g.47574356G>C | CA412823072 | SYN1 | c.1628C>G (p.Pro543Arg) c.70+332C>G (n.70+332C>G) | |
| X | g.47574356G>T | CA412823073 | SYN1 | c.1628C>A (p.Pro543His) c.70+332C>A (n.70+332C>A) | |
| X | g.47574361_47574444del | CA2693585170 | SYN1 | c.1545_1628del (p.Gln516_Pro543del) c.70+249_70+332del (n.70+249_70+332del) | gnomAD v4 |
| X | g.47574357G>A | CA329057293 | SYN1 | c.1627C>T (p.Pro543Ser) c.70+331C>T (n.70+331C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.47574357G>C | CA412823074 | SYN1 | c.1627C>G (p.Pro543Ala) c.70+331C>G (n.70+331C>G) | |
| X | g.47574357G= | CA2427971275 | SYN1 | c.1627C= (p.Pro543=) c.70+331C= (n.70+331C=) | |
| X | g.47574357G>T | CA412823075 | SYN1 | c.1627C>A (p.Pro543Thr) c.70+331C>A (n.70+331C>A) | gnomAD v4 |
| X | g.47574359_47574360del | CA2579596679 | SYN1 | c.1626_1627del (p.Pro543SerfsTer?) c.70+330_70+331del (n.70+330_70+331del) | |
| X | g.47574358C>A | CA516353960 | SYN1 | c.1626G>T (p.Ala542=) c.70+330G>T (n.70+330G>T) | dbSNP gnomAD v4 |
| X | g.47574358C>G | CA516353962 | SYN1 | c.1626G>C (p.Ala542=) c.70+330G>C (n.70+330G>C) | |
| X | g.47574358C>T | CA516353961 | SYN1 | c.1626G>A (p.Ala542=) c.70+330G>A (n.70+330G>A) | gnomAD v4 |
| X | g.47574359G>A | CA412823076 | SYN1 | c.1625C>T (p.Ala542Val) c.70+329C>T (n.70+329C>T) | gnomAD v4 |
| X | g.47574359G>C | CA412823079 | SYN1 | c.1625C>G (p.Ala542Gly) c.70+329C>G (n.70+329C>G) | |
| X | g.47574359G>T | CA412823078 | SYN1 | c.1625C>A (p.Ala542Glu) c.70+329C>A (n.70+329C>A) | gnomAD v4 |
| X | g.47574360C>A | CA412823081 | SYN1 | c.1624G>T (p.Ala542Ser) c.70+328G>T (n.70+328G>T) | dbSNP |
| X | g.47574360C= | CA2427971276 | SYN1 | c.1624G= (p.Ala542=) c.70+328G= (n.70+328G=) | |
| X | g.47574360C>G | CA412823082 | SYN1 | c.1624G>C (p.Ala542Pro) c.70+328G>C (n.70+328G>C) | |
| X | g.47574360C>T | CA412823084 | SYN1 | c.1624G>A (p.Ala542Thr) c.70+328G>A (n.70+328G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.47574363del | CA2693585181 | SYN1 | c.1624del (p.Ala542ArgfsTer?) c.70+328del (n.70+328del) | gnomAD v4 |
| X | g.47574361C>A | CA516353963 | SYN1 | c.1623G>T (p.Gly541=) c.70+327G>T (n.70+327G>T) | |
| X | g.47574361C>G | CA516353964 | SYN1 | c.1623G>C (p.Gly541=) c.70+327G>C (n.70+327G>C) | |
| X | g.47574361C>T | CA516353965 | SYN1 | c.1623G>A (p.Gly541=) c.70+327G>A (n.70+327G>A) | gnomAD v4 |
| X | g.47574362C>A | CA412823085 | SYN1 | c.1622G>T (p.Gly541Val) c.70+326G>T (n.70+326G>T) | gnomAD v4 |
| X | g.47574362C>G | CA412823087 | SYN1 | c.1622G>C (p.Gly541Ala) c.70+326G>C (n.70+326G>C) | |
| X | g.47574362C>T | CA412823088 | SYN1 | c.1622G>A (p.Gly541Glu) c.70+326G>A (n.70+326G>A) |